Zigomicosis y síndrome hemofagocítico en un paciente inmunocompetente: informe de caso / Zygomycosis and hemophagocytic lymphohistiocytosis in an immunocompetent patient: a case report

Introducción: la zigomicosis es una infección fúngica poco frecuente, con alta tasa de mortalidad y de mal pronóstico. Afecta principalmente a pacientes inmunocomprometidos. La asociación con el síndrome hemofagocítico es extremadamente inusual, más aún en pacientes inmunocompetentes, con pocos ejemplos registrados en la literatura. Caso clínico: se presenta el caso de un paciente masculino inmunocompetente de 40 años con diagnóstico de mucormicosis y síndrome hemofagocítico que evoluciona desfavorablemente, con fallo multiorgánico, a pesar de los esfuerzos médicos. Conclusión: la asociación de mucormicosis con síndrome hemofagocítico en un paciente inmunocompetente es extremadamente rara; existen pocos casos informados en Latinoamérica. Debemos tener presente esta asociación, ya que requiere un tratamiento agresivo y soporte vital avanzado. (AU)

Introduction: zygomycosis is a rare fungal infection that carries with high mortality rates. This poor prognosis, rapidly progressive infection mainly affects immunocompromised patients. The association with hemophagocytic lymphohistiocytosis is extremely unusual, even more in immunocompetent patients, with few cases reported. Case: we present the case of an immunocompetent male patient who was diagnosed with zygomycosis and hemophagocytic lymphohistiocytosis. Despite medical efforts he developed multiorganic failure. Conclusion: the association of mucormycosis with hemophagocytic lymphohistiocytosis in an immunocompetent patient is exceptional with few cases reported in Latin America. We must always suspect this association considering they require aggressive treatment and advanced life support. (AU)

Leucemia linfoblástica aguda con grave alteración hepática como manifestación inicial: presentación de dos casos y revisión de la literatura / Acute lymphoblastic leukemia causing hepatic failure: report of two cases

Hematological diseases may cause acute hepatic failure and are seldom sought. We report two cases illustrating this situation. A 16-year-old male presented with an acute liver failure: a bone marrow biopsy showed complete infiltration with lymphoid type blasts. A flow cytometry confirmed the presence of an acute lymphoblastic leukemia. The patient died days later. A 20-year-old female presented with acute liver failure: due to a pancytopenia, a bone marrow biopsy was performed, which confirmed the presence of an acute lymphoblastic leukemia. Chemotherapy was started immediately. The patient had a favorable evolution.

Marrow hypoplasia: a rare complication of untreated Grave’s disease / Hipoplasia de medula óssea: uma rara complicação da doença de Graves não tratada

Atypical presentation forms of hyperthyroidism are always a challenge to the clinician. We present a female patient with the typical symptoms of thyrotoxicosis, without any thionamides treatment before, associated with pancytopenia, which recovered after euthyroidism state was achieved. Although the major cases of pancytopenia in Grave’s disease are seen as a complication of antithyroid drugs (thioamides), in this case report the alteration in blood tests was associated with untreated hyperthyroidism. In the literature review, we found 19 case reports between 1981 to 2012, but it has been related to a hypercellular bone marrow with periferic destruction. Our case, however, is about a hypocellular bone marrow without fibrosis or fat tissue replacement, which proceeded with a periferic improvement following thyroid treatment. Although rare, pancytopenia, when present, may develop as an unusual and severe manifestation in untreated subjects.

Formas atípicas de apresentação do hipertireoidismo são sempre um desafio para o clínico. Apresentamos uma paciente do sexo feminino, com sintomas típicos de tireotoxicose associado a um quadro de pancitopenia sem nenhum tratamento prévio com tionamidas. A melhora da alteração hematológica ocorreu após recuperação do eutireoidismo. Embora a maioria dos casos de pancitopenia na doença de Graves seja uma complicação das drogas antitireoidianas (tionamidas), neste caso a alteração hematológica foi associada ao quadro de hipertireoidismo não tratado. Após uma revisão na literatura, encontramos 19 relatos de caso descritos no período de 1981 a 2012, nos quais o quadro de pancitopenia estava relacionado à hipercelularidade medular com destruição periférica das células sanguíneas. Nosso caso, entretanto, trata-se de uma pancitopenia com medula óssea hipocelular, sem infiltração por tecido adiposo ou fibrose, que evoluiu com melhora dos elementos do sangue periférico após tratamento do hipertireoidismo. Embora rara, a pancitopenia, quando presente, pode se manifestar como uma severa manifestação se não tratada a condição desencadeadora.

Etiological profile of pancytopenia in adults in Marrakesh, Morocco

This retrospective study evaluated the frequency of different causes of pancytopenia in all adult patients with pancytopenia presenting to the Department of Haematology of Mohamed VI Hospital, Marrakesh from 1 January 2008 to 31 December 2010. A total of 118 cases of pancytopenia were found [average of 39 cases per year]. The mean age of patients was 52 years [range 18-82 years] and 52.5% were male. The main clinical signs were pallor [100%], asthenia [100%] and fever [30.5%]. Mean haemoglobin was 6.5 g/dL [range 2.9-9.2 g/dL], mean white blood cell count was 2360/mm[3] [range 840-3360/mm[3]] and platelet count 66 000/mm[3] [range 3000-123 000/mm[3]]. Bone marrow aspiration was performed in 112 patients; megaloblastosis was found in 32.2% and marrow blasts in 23.7%. Anaemia due to vitamin B[12] deficiency [32.2%], acute leukaemia [23.7%] and aplastic anaemia [15.2%] were the main causes of pancytopenia. Given the incidence of acute leukemia among our cases, patients presenting with pancytopenia require urgent diagnosis and treatment

Clinico-hematological profile of Pancytopenia in Manipur, India

To determine the etiology and clinical profile of pancytopenia in Manipur, India Prospective study Department of Pathology, Regional Institute of Medical Sciences [RIMS], Imphal, Manipur, a renowned referral hospital in north-east India Fifty cases of pancytopenia were examined in the department of Pathology, RIMS hospital, Imphal, Manipur,India, during a two year period from November 1999 to October 2001. Bone marrow aspiration and examination Correlation between pancytopenia and clinico-hematological diagnosis Hypoplastic anemia was the commonest cause of pancytopenia [22%] followed by megaloblastic anemia and myelodysplastic syndrome [18% each]. The other causes include subleukemic / aleukaemic leukemia [14%], iron deficiency anemia [8%], HIV infection [6%], congenital dyserythropoietic anemia [CDA, 4%], pyrexia of unknown origin [PUO] with hepatosplenomegaly [4%], congenital hepatic fibrosis [2%] and systemic lupus erythomatosus [SLE, 2%]. Rare causes of pancytopenia including iron deficiency anemia, HIV infection and CDA have to be kept in mind as possible disorders manifesting as pancytopenia

Myelodysplastic syndrome and pancytopenia responding to treatment of hyperthyroidism: peripheral blood and bone marrow analysis before and after antihormonal treatment.

Hematological disorders, especially single lineage abnormalities, have been described in hyperthyroidism. Pancytopenia has been reported, without myelodysplastic syndrome or megaloblastic anemia. We studied the peripheral blood smear and the bone marrow aspiration and biopsy of a 65-year-old lady, who presented with pancytopenia and thyrotoxicosis due to multinodular goiter. She denied ingesting any toxic medication. At diagnosis: WBC: 2500/ul, platelets count: 58,000/ul, hemoglobin level: 6.5 g/dl. The bone marrow was moderately hyper cellular with moderate myelofibrosis and arrested hematopoiesis. The TSH level was: 0.02 mIU/l (N: 0.25-4), the fT3: 18 pmol/l (N: 4-10), the routine serum immunologic tests were negative. After treatment with single agent neomercazole (carbimazole), complete recovery of the blood cell counts was obtained within one month. The bone marrow aspiration, performed three months after starting therapy, showed normal hematopoiesis. The thyroid function tests returned to normal and no autoimmune reaction was detected on routine serum testing. Persistent response was observed six months later under medical treatment. The patient has refused surgical treatment. Reversible myelodysplastic syndrome may also be part of the changes in blood picture of patients with hyperthyroidism, probably due to direct toxic mechanism.

Paroxysmal nocturnal hemoglobinuria in childhood: an uncommon presentation.

An eight year old boy presented with severe anemia and bleeding spots. Complete blood count showed pancytopenia. There was mild reticulocytosis. Bone marrow was hypocellular with normoblastic erythroid hyperplasia. Ham's test (acidified serum test) was positive which confirmed the diagnosis of Paroxysmal nocturnal hemoglobinuria (PNH). Although PNH is rare in childhood, it should be considered as a diagnostic possibility in cases of aplastic anemia as the two conditions can coexist. The presence of PNH in association with aplastic anemia can influence the outcome of the latter.

Red cell indices for distinguishing macrocytosis of aplastic anaemia and megaloblastic anaemia.

Megaloblastic anaemia and aplastic anaemia are important causes of pancytopenia in India. Since both may have presence of macrocytes, peripheral smear examination alone may pose a difficulty in distinction between the two in the absence of macro-ovalocytes and hypersegmented neutrophils. The present study was conducted to evaluate the role of red cell indices in differentiation between macrocytosis of aplastic anaemia and megaloblastic anaemia. Haemogram from 25 cases each of biopsy proven megaloblastic anaemia and aplastic anaemia were reviewed. It was observed that MCV was greater than 97 fl in 15 cases of aplastic anemia (mean MCV 109.7 fl), and 25 cases of megaloblastic anaemia (mean MCV 113.2 fl). Hb, MCV & MCHC were comparable in the two groups. However, mean RDW in megaloblastic anaemia (mean 87.7 fl) was significantly higher than those in aplastic anaemia (mean 71.4 fl). The difference in RDW of patients with megaloblastic anaemia and aplastic anaemia was statistically significant. We conclude that RDW can be of help to differentiate between the two conditions.

Pancytopenia--a clinico haematological study of 200 cases.

The present study was designed to ascertain the percentage of occurrence and causes of pancytopenia. All the cases of pancytopenia from July 2001 to June 2002 (one year) were examined in the Department of haematology, Safdarjung Hospital, New Delhi. Bone marrow aspirations/biopsy were performed in most of the cases (200 out of 250 cases). The commonest cause of pancytopenia, in our hospital was Megaloblastic anaemia (72%), followed by Aplastic anaemia (14%) and others.

Anormalidades cromosómicas clonales en enfermedades hematológicas malignas mediante fish / Clonal chromosomal abnormalities in malignant hematological diseases by fish

La hibridación in situ fluorescente (FISH) es un método rápido, sensible y confiable que permite la identificación de cromosomas completos o porciones de los mismos tanto en metafases como en núcleos en interfase. En este trabajo se analizaron 32 muestras de medula ósea de pacientes con enfermedades hematológicas malignas (11 LMA, 7 LLA, 12 LMC y 2 LLC). Estas fueron referidas a la Unidad de Genética Médica de la Facultad de Medicina de la Universidad del Zulia, Maracaibo, Venezuela durante los años 1994-1996. Todas las muestras se analizaron mediante técnicas citogenéticas convencionales y moleculares (FISH) utilizando sondas de cromosomas totales, alfa satelites y locus específicos. En los pacientes con LMA y LLA la técnica de FISH detectó anomalias cromosómicas clonales no detectadas por la técnica citogenética convencional. Así mismo, se identificó el complejo PML-alfa RARA en las leucemias promielociticas agudas. En el caso de la LMC se demostró la presencia del complejo molecular ABL-BCR. En este trabajo se demuestra la utilidad del FISH en la detección de anomalías cromosómicas clonales, las cuales son importantes en el manejo clínico de pacientes con este tipo de patologías

Carcinocythemia in a patient with rhabdomyosarcoma

Solid tumor cells are rarely seen in peripheral blood smears. When this occurs the term carcinocythemia is used. This report describes an 18 years old female who presented with a painless lump in the labia majora associated with pancytopenia. Tumor cells were identified int he peripheral blood smear and the bone marrow aspirate showed a predominant population of small round vacuolated primitive cells, many of which formed clumps of varying sizes. Biopsies of the vulvar mass and bone marrow were interpreted as alveolar rhabdomyosarcoma. Review of the literature revealed 12 previously reported cases in whom carcinocythemia had been documented; rhabdomyosarcoma was the specific cell type involved in only two of these. The median time between detection of the leukemic phase of the tumor and death was 8.5 weeks, reflecting the fact that carcinocythemia, when it occurs, represents the terminal event of the disease. To our knowledge, our case is the third well documented case of rhabdomyosarcoma in leukemic phase so far reported. The clinical evolution as well as the management of this patient will be described in detail along with a review of the partinent available literature

Role of lithium carbonate in pancytopenia following cytotoxic therapy.

Twenty-four patients presenting with pancytopenia following cytotoxic therapy were studied. Seventeen of them were given 900 mg/day of lithium carbonate apart from other supportive measures. Seven patients were used as controls and were not given any lithium. After 2 weeks, granulocyte count was significantly higher (p less than .05) in lithium-treated group. Platelet count was also higher though not statistically significant.